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印度安得拉邦近亲及非近亲家庭中血压的混合与分离分析

Commingling and segregation analysis of blood pressure in consanguineous and nonconsanguineous families from Andhra Pradesh, India.

作者信息

Nirmala A, Rice Treva, Reddy P Chengal, Krishna K Sreerama, Ramana P Venkata, Rao D C

机构信息

Department of Physical Anthropology, S. V. University, Tirupathi, A.P., India.

Division of Biostatistics, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Am J Hum Biol. 1992;4(6):703-716. doi: 10.1002/ajhb.1310040602.

Abstract

The hypothesis of a major gene effect for systolic blood pressure (SBP) and diastolic blood pressure (DBP) was examined in families from Andhra Pradesh, India, where consanguinity and marriage within caste are commonly practiced. The data were examined separately by noninbred versus complete (inbred + noninbred) families, both before and after correction for residual skewness. For SBP in the noninbred sample prior to skewness transformation, evidence consistent with a relatively common major recessive gene (q = 0.31) accounted for approximately 30% of the variance. In the combined sample, although Mendelian τs were rejected, the major gene estimates were similar to those in the noninbred data, and failure to account for inbreeding in the likelihood function may have influenced the results. After transformation of the data for residual skewness only a multifactorial component resulted, which accounted for about 80% (complete sample) and 100% (noninbred sample) of the offspring variance, and less than 10% of the parental variance. Even though the major gene effect disappeared after skewness transformation, the putative recessive major gene found for SBP prior to the transformation may be genuine since the tests on the transmission probabilities supported Mendelian transmission while the equal τs hypothesis was rejected. For DBP, both a major nontransmissible effect accounting for about 20% of the variance and a multifactorial component accounting for about 55% (offspring) and about 15% (parents) was found. For the noninbred DBP data, transformation for residual skewness removed the major non-Mendelian effect altogether. These data suggest inbreeding effects for SBP, with a pattern of smaller variances due to multifactorial sources (i.e., polygenic and/or cultural) in the sample which included consanguineous families. Adding inbred families reduced the evidence for Mendelian transmission of the major effect. © 1992 Wiley-Liss, Inc.

摘要

在印度安得拉邦的一些家庭中,对收缩压(SBP)和舒张压(DBP)的主基因效应假说进行了检验,这些家庭中近亲结婚和种姓内通婚现象很普遍。数据分别按非近亲家庭与完整家庭(近亲 + 非近亲)进行检验,检验时分别在对残差偏度进行校正之前和之后。对于非近亲样本中未进行偏度转换的SBP,与一个相对常见的主隐性基因(q = 0.31)相符的证据占方差的约30%。在合并样本中,尽管孟德尔τ值被拒绝,但主基因估计值与非近亲数据中的相似,似然函数中未考虑近亲繁殖可能影响了结果。仅对数据进行残差偏度转换后,只剩下多因素成分,其分别占后代方差的约80%(完整样本)和100%(非近亲样本),占亲代方差的比例不到10%。尽管偏度转换后主基因效应消失,但在转换前发现的SBP的假定隐性主基因可能是真实的,因为对传递概率的检验支持孟德尔传递,而等τ值假说被拒绝。对于DBP,发现了一个占方差约20%的非传递性主效应和一个分别占约55%(后代)和约15%(亲代)的多因素成分。对于非近亲DBP数据,残差偏度转换完全消除了非孟德尔主效应。这些数据表明SBP存在近亲繁殖效应,在包含近亲家庭的样本中,多因素来源(即多基因和/或文化)导致的方差较小。纳入近亲家庭减少了主效应孟德尔传递的证据。© 1992威利 - 利斯公司。

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